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Haemoglobin E Disease

Hemoglobin E


  • Anisocytosis, poikilocytosis, and target cells were present in almost all cases.[jscisociety.com]
  • Hemoglobin S in moderate amounts can mean that sickle cell trait is present. Hemoglobin S in high amounts means sickle cell disease . Hemoglobin C in low amounts can mean that hemoglobin C trait is present.[northshore.org]
  • Numerous electrophoretic bands can occur when Hb G-Philadelphia is present. When Hb AA is present, there is usually 25 to 40 % Hb G-Phil and a faint band of G, in the carbonic anhydrase location.[sctpn.net]
  • Identification of this Hb variant is important because patients with doubly heterozygous HbE/β-thalassemia may present clinically as thalassemia major.[jlponline.org]
  • In homozygous Hb E, no Hb A will be seen, whereas a small amount of Hb F (fetal Hb) may be present. Usually the amount of Hb F is In the present study we evaluated chromatograms of 70 patients with homozygous Hb E disorder.[degruyter.com]
  • […] haemoglobin level, vaccinations to prevent Infections that may worsen the anemia, and identification and treatment of potential Infectious sites are essential, together with regular evaluation for lithiasis of the biliary tract, which may Lead to hepatic colic[codelay.com]
  • All patients who were found to be nonreactive to the above mentioned screening tests were included into the study, Patients who had history of claustrophobia and metallic implants were also excluded.[omicsonline.org]
  • Children and some adults have increased incidence of sepsis, meningitis, and other serious infections with Streptococcus pneumoniae, Hemophilus influenzae, Salmonella species, and Mycoplasma pneumoniae.[sctpn.net]


  • Therefore, a hematological workup was initiated. The results of an evaluation revealed the presence of HbE trait based on the decreased HbA level of 65% with an increase in HbE.[ispub.com]
  • […] through this case report we would like to share our experience, namely, that if one's patient is a pregnant lady from the northeast part of India presenting with anemia even a small clue against iron-deficiency anemia in the history, examination, or workup[jmedsoc.org]
  • The tests that are ordered to search for haemoglobin variants are also used for thalassaemia workups. Searching for both is important because thalassaemia is sometimes inherited along with a haemoglobin variant.[labtestsonline.org.au]
Microcytic Anemia
  • Patients present with a moderate to severe microcytic anemia (average MCV 70 fl, Hgb 6 g/dl) and an increased reticulocyte count.[path.upmc.edu]
  • In homozygotes, a mild microcytic anemia with prominent target cells exists. Diagnosis of hemoglobin E disorders is by hemoglobin electrophoresis. Most patients do not require treatment.[merckmanuals.com]
  • The RBC count is also useful as a diagnostic adjunct because the thalassemias produce a microcytic anemia with an associated increase in the RBC number.[clinchem.aaccjnls.org]
  • It is found primarily in Southeast Asia. rs33950507 (A) is associated with somewhat increased malarial resistance, and in homozygous (A;A) state, with mild hypochromic microcytic anemia.[ PMID 16114182 ] [ PMID 19087310 ] Microarray-based estimation of[snpedia.com]


  • The second edition concludes with current and developing approaches to treatment, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy[books.google.com]
  • Which treatment must I follow if I have the disease? Most often no particular treatment is requested. If some complications happen, patients must consult specialist doctors. In case of Hb E-Β-thalassaemia, transfusion therapy might be required.[enerca.org]
  • Treatment of infections, as well of Thrombosis prophylaxis, is recommended. Bone Marrow Transplantationis only rarely indicated.[codelay.com]
  • Most people with HbE disease do not need any treatment. [1] [2] Last updated: 3/22/2017[rarediseases.info.nih.gov]
  • Most patients do not require treatment. However, patients with severe disease may benefit from chronic transfusions or splenectomy. Click here for Patient Education NOTE: This is the Professional Version.[merckmanuals.com]


  • Pain episodes, end-organ damage, and prognosis may be similar or perhaps even worse for bone and retinal disease when compared to homozygous sickle anemia.[sctpn.net]


  • The etiology of this patient's anemia is most likely due to double heterozygosity for Hb E and beta thalassemia.[path.upmc.edu]


  • […] mutations, it provides an increased resistance to malaria ( P. falciparum ). [5] This disease was first described by Virginia Minnich in 1954, who discovered a high prevalence of it in Thailand and initially referred to it as "Mediterranean Anaemia." [7] Epidemiology[en.wikipedia.org]
  • EPIDEMIOLOGY  Hemoglobin E beta-thalassemia (Hb E thalassemia) accounts for approximately half of all the cases of severe thalassemia in the world population.  Hb E thalassemia occurs widely throughout the eastern half of the Indian subcontinent, Bangladesh[slideshare.net]
  • Malaria Genomic Epidemiology Network Consortium. A global network for investigating the genomic epidemiology of malaria . Nature 456 , 732–737 (2008). 48. Gilks, W. R. , Richardson, S. & Spiegelhalter, D. Markov chain Monte Carlo in Practice.[nature.com]
  • Global epidemiology of haemoglobin disorders and derived service indicators. . Accessed December 3, 2013. HbVar: A database of human hemoglobin variants and thalassemias. . Accessed December 3, 2013. Giordano, PC.[mlo-online.com]
  • Genetic epidemiology of the three predominant abnormal hemoglobins in India. J Assoc Physicians India 1996;44:25-8. 2. Krishnamurti L.[jmedsoc.org]
Sex distribution
Age distribution


  • Pathophysiology of common hemoglobin disorders is discussed next in an entirely new section devoted to vascular biology, the erythrocyte membrane, nitric oxide biology, and hemolysis.[books.google.com]
  • Pathophysiology  The pathophysiology of HbE β thalassemia reflects both the reduced output of HbE together with the added globin-chain imbalance consequent on the coinheritance of β thalassemia  Globally, the intermediate forms of beta-thalassaemia[slideshare.net]
  • Interaction between HbE and β-thalassemia alleles is the main determinant in pathophysiology. [4], [7], [8], [12] Thai investigations suggest that patients who coinherit a mild β-thalassemia allele with HbE may have disease on mild end of the spectrum[jlponline.org]
  • The question is wether there are pathophysiological consequences of this association.[ispub.com]
  • Teach patient and family the pathophysiology of sickle cell disease in understandable terms.[medical-dictionary.thefreedictionary.com]


  • During childhood, regular follow-up of Growth and Facial deformities, haemoglobin level, vaccinations to prevent Infections that may worsen the anemia, and identification and treatment of potential Infectious sites are essential, together with regular[codelay.com]
  • P.C.Giordano: Carrier Diagnostics and Prevention of Haemoglobinopathies using Capillary Electrophoresis, Companion handbook for the Physician, the laboratory doctor and Genetic counselor 2007:9-10 CHERNOFF AI, MINNICH V, CHONGCHAREONSUK S.[medresearch.in]
  • It has an increased affinity for oxygen which prevents it from releasing oxygen to the tissues and cells. HbH can result in fewer red blood cells with mild to moderate anemia but usually no clinical symptoms develop.[wikilectures.eu]
  • Jude Children's Research Hospital Sickle Cell Kids Quiz Centers for Disease Control and Prevention Sickle Cell Disease Association of America MSDH Newborn Screening: Genetic Counseling Questions & Answers Mississippi Sickle Cell Foundation Cure Sickle[msdh.ms.gov]
  • It appears therefore that the splicing process of βE -globin pre mRNA differs among HbE β -thalassemia patients and serves as one of the modifying factors for disease severity  A decrease of aberrantly spliced βE -globin mRNA levels prevent accumulation[slideshare.net]

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